Associated Papers
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.
Tekin M et al.
Annals of Human Genetics, 2010
Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.
Lin HJ et al.
The Journal of Pediatrics, 2009
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
Pollak A et al.
American Journal of Medical Genetics. Part A, 2007
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.
Lee WI et al.
Blood, 2005
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